Canonical Allele Identifier: CA352646421

Gene: COL7A1

Linked Data

• MyVariant Identifiers: chr3:g.48607748A>C (hg19) ; chr3:g.48570315A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570315A>C , CM000665.2:g.48570315A>C	GRCh38
NC_000003.11:g.48607748A>C , CM000665.1:g.48607748A>C	GRCh37
NC_000003.10:g.48582752A>C	NCBI36
NG_007065.1:g.29938T>G , LRG_286:g.29938T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7400T>G MANE Select	ENSP00000506558.1:p.Leu2467Arg
ENST00000328333.12:c.7400T>G	ENSP00000332371.8:p.Leu2467Arg
ENST00000422991.1:c.395T>G	ENSP00000391608.1:p.Leu132Arg
ENST00000459756.5:n.127T>G
ENST00000467985.1:n.150T>G
ENST00000487017.5:n.4039T>G
NM_000094.3:c.7400T>G , LRG_286t1:c.7400T>G	NP_000085.1:p.Leu2467Arg
XM_011533336.1:c.7427T>G	XP_011531638.1:p.Leu2476Arg
XM_011533337.1:c.7400T>G	XP_011531639.1:p.Leu2467Arg
XM_011533338.1:c.7408-137T>G	XP_011531640.1:n.7408-137T>G
XM_011533339.1:c.7427T>G	XP_011531641.1:p.Leu2476Arg
XM_011533340.1:c.7408-63T>G	XP_011531642.1:n.7408-63T>G
XM_011533341.1:c.7382-63T>G	XP_011531643.1:n.7382-63T>G
XM_011533342.1:c.7382-137T>G	XP_011531644.1:n.7382-137T>G
XR_940369.1:n.7463T>G
XR_940370.1:n.7463T>G
XR_940371.1:n.7463T>G
XR_940372.1:n.7437T>G
XM_017005688.1:c.7381-137T>G	XP_016861177.1:n.7381-137T>G
XM_017005689.1:c.7400T>G	XP_016861178.1:p.Leu2467Arg
XM_017005690.1:c.7381-63T>G	XP_016861179.1:n.7381-63T>G
XM_017005691.1:c.7355-63T>G	XP_016861180.1:n.7355-63T>G
XM_017005692.1:c.7355-137T>G	XP_016861181.1:n.7355-137T>G
XR_001740003.1:n.7436T>G
XR_001740004.1:n.7436T>G
XR_001740005.1:n.7436T>G
XR_001740006.1:n.7410T>G
NM_000094.4:c.7400T>G MANE Select	NP_000085.1:p.Leu2467Arg